Literature DB >> 19706062

Epilepsy spectrum in cerebral creatine transporter deficiency.

Carmen Fons, Angela Sempere, Francesc X Sanmartí, Angela Arias, Pilar Póo, Mercedes Pineda, Antonia Ribes, Begoña Merinero, Maria A Vilaseca, Gajja S Salomons, Rafael Artuch, Jaume Campistol.   

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Year:  2009        PMID： 19706062     DOI： 10.1111/j.1528-1167.2009.02142.x

Source DB:  PubMed          Journal:  Epilepsia        ISSN： 0013-9580            Impact factor:   5.864


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  6 in total

1.  Novel translational phenotypes and biomarkers for creatine transporter deficiency.

Authors:  Raffaele Mazziotti; Francesco Cacciante; Giulia Sagona; Leonardo Lupori; Mariangela Gennaro; Elena Putignano; Maria Grazia Alessandrì; Annarita Ferrari; Roberta Battini; Giovanni Cioni; Tommaso Pizzorusso; Laura Baroncelli
Journal:  Brain Commun       Date:  2020-07-03

2.  Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.

Authors:  David Cheillan; Marie Joncquel-Chevalier Curt; Gilbert Briand; Gajja S Salomons; Karine Mention-Mulliez; Dries Dobbelaere; Jean-Marie Cuisset; Laurence Lion-François; Vincent Des Portes; Allel Chabli; Vassili Valayannopoulos; Jean-François Benoist; Jean-Marc Pinard; Gilles Simard; Olivier Douay; Kumaran Deiva; Alexandra Afenjar; Delphine Héron; François Rivier; Brigitte Chabrol; Fabienne Prieur; François Cartault; Gaëlle Pitelet; Alice Goldenberg; Soumeya Bekri; Marion Gerard; Richard Delorme; Marc Tardieu; Nicole Porchet; Christine Vianey-Saban; Joseph Vamecq
Journal:  Orphanet J Rare Dis       Date:  2012-12-13       Impact factor: 4.123

3.  Creatine transporter deficiency: Novel mutations and functional studies.

Authors:  O Ardon; M Procter; R Mao; N Longo; Y E Landau; A Shilon-Hadass; L V Gabis; C Hoffmann; M Tzadok; G Heimer; S Sada; B Ben-Zeev; Y Anikster
Journal:  Mol Genet Metab Rep       Date:  2016-06-30

4.  Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.

Authors:  Gilyazetdinov Kamil; Ju Young Yoon; Sukdong Yoo; Chong Kun Cheon
Journal:  Orphanet J Rare Dis       Date:  2021-07-03       Impact factor: 4.123

5.  Metabolic causes of epileptic encephalopathy.

Authors:  Joe Yuezhou Yu; Phillip L Pearl
Journal:  Epilepsy Res Treat       Date:  2013-05-22

Review 6.  The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.

Authors:  Clemens V Farr; Ali El-Kasaby; Michael Freissmuth; Sonja Sucic
Journal:  Front Synaptic Neurosci       Date:  2020-10-23
  6 in total

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